Meier-Gorlin syndrome

Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate ...1

... More on Meier-Gorlin syndrome »

Symptoms of Meier-Gorlin syndrome

Symptoms: Most people with Meier-Gorlin syndrome have all three characteristic features of this condition, including small ears, absent or underdeveloped kneecaps (patellae), and short stature.[2] Additional features may include small head size, low-set ears, small mouth, full ...2

... More Symptoms of Meier-Gorlin syndrome »

Causes of Meier-Gorlin syndrome

Cause: Meier-Gorlin syndrome type 1 is caused by homozygous or compound heterozygous mutations in the ORC1 gene on chromosome 1p32. Meier-Gorlin syndrome type 2 is caused by homozygous or compound heterozygous mutations in the ORC4 gene on chromosome ...3

... More Causes of Meier-Gorlin syndrome »

Types of Meier-Gorlin syndrome

Some types of this condition may include:4 Types of Meier-Gorlin syndrome:

... More Types of Meier-Gorlin syndrome »

Genetics of Meier-Gorlin syndrome

Genetic Changes: Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1 , ORC4 , ORC6 , CDT1 , and CDC6 , provides instructions for making one of a group of proteins known as the pre-replication ...5

... More on Genetics of Meier-Gorlin syndrome »

Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)6 ...

... More General Information on Meier-Gorlin syndrome »

   •   •   •

References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ meier-gorlin-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 2033/ meier-gorlin-syndrome
  3. ibid.
  4. Source: NCI Thesaurus
  5. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ meier-gorlin-syndrome
  6. ibid.

   •   •   •

Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.